rs7258218

Homo sapiens
C>A
LOC105372347 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0305 (9118/29874,GnomAD)
A=0323 (9423/29118,TOPMED)
A=0328 (1645/5008,1000G)
A=0249 (959/3854,ALSPAC)
A=0248 (921/3708,TWINSUK)
chr19:27908212 (GRCh38.p7) (19q11)
AD
GWASdb2
1   publication(s)
See rs on genome
17 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.27908212C>A
GRCh37.p13 chr 19NC_000019.9:g.28399120C>A

Gene: LOC105372347, uncharacterized LOC105372347(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
LOC105372347 transcriptXR_001753886.1:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.553A=0.447
1000GenomesAmericanSub694C=0.730A=0.270
1000GenomesEast AsianSub1008C=0.614A=0.386
1000GenomesEuropeSub1006C=0.728A=0.272
1000GenomesGlobalStudy-wide5008C=0.672A=0.328
1000GenomesSouth AsianSub978C=0.790A=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.751A=0.249
The Genome Aggregation DatabaseAfricanSub8696C=0.606A=0.394
The Genome Aggregation DatabaseAmericanSub838C=0.710A=0.290
The Genome Aggregation DatabaseEast AsianSub1598C=0.633A=0.367
The Genome Aggregation DatabaseEuropeSub18440C=0.740A=0.259
The Genome Aggregation DatabaseGlobalStudy-wide29874C=0.694A=0.305
The Genome Aggregation DatabaseOtherSub302C=0.740A=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.676A=0.323
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.752A=0.248
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs72582180.000579alcohol consumption (maxi-drinks)24277619

eQTL of rs7258218 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs7258218 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr192839590628395983E067-3137
chr192839623828396327E067-2793
chr192839660028397548E067-1572
chr192839590628395983E068-3137
chr192839623828396327E068-2793
chr192839660028397548E068-1572
chr192839660028397548E069-1572
chr192839590628395983E071-3137
chr192839623828396327E071-2793
chr192839660028397548E071-1572
chr192839623828396327E072-2793
chr192839660028397548E072-1572
chr192839623828396327E073-2793
chr192839623828396327E074-2793
chr192839660028397548E074-1572
chr192844632028446447E08147200
chr192844652228446797E08147402